ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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10
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OrphanetNr:
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OMIM Id:
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242550
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0003355)
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Aminoaciduria |
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65 / 7739
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2
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(HPO:0001249)
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Intellectual disability |
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1089 / 7739
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3
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(HPO:0007431)
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Congenital ichthyosiform erythroderma |
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17 / 7739
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4
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(HPO:0008064)
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Ichthyosis |
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108 / 7739
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5
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(HPO:0001595)
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Abnormality of the hair |
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89 / 7739
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6
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(OMIM)
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Absent urinary proline and hydroxyproline |
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1 / 7739
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7
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(OMIM)
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Excess urinary arginine, serine, lysine and alanine |
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1 / 7739
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8
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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9
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(OMIM)
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Collodion skin |
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2 / 7739
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10
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(OMIM)
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Split hair |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |